P52S (p.Pro52Ser) variant of CHD7 (Q9P2D1)
P52S (p.Pro52Ser) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- TOPMed rs1203631802
- gnomAD rs1203631802
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.04
- CADD 17.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available